PEGORARO, ELENA

PEGORARO, ELENA  

Dipartimento di Neuroscienze - DNS  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 2021 Pegoraro E. + FRONTIERS IN GENETICS - -
169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands. 2011 PEGORARO, ELENA + NEUROMUSCULAR DISORDERS - -
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France 2017 PEGORARO, ELENAGORECKI, DARIUSZ , CEZARYSANDONA', DORIANNASEMPLICINI, CLAUDIO + NEUROMUSCULAR DISORDERS - -
238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018 2019 Pegoraro E. + NEUROMUSCULAR DISORDERS - -
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy. 2013 BELLO, LUCAPEGORARO, ELENA + PLOS ONE - -
A 3d culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction 2019 Pegoraro E. + ELIFE - -
A 5-year clinical follow-up study from the Italian National Registry for FSHD 2021 Angelini C.Pegoraro E. + JOURNAL OF NEUROLOGY - -
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes. 2014 BELLO, LUCAPEGORARO, ELENA + PLOS ONE - -
A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation 2001 PEGORARO, ELENAANGELINI, CORRADO + NEUROLOGY - -
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. 2000 PEGORARO, ELENAFANIN, MARINATREVISAN, CARLO PIETROANGELINI, CORRADO + NEUROLOGY - -
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not results in Charcot-Marie-Tooth disease type 2E 2005 MOSTACCIUOLO, MARIA LUISAANGELINI, CORRADOPEGORARO, ELENA + NEUROGENETICS - -
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 2013 GREGIANIN, ELISAVAZZA, GIOVANNIBOARETTO, FRANCESCAVETTORI, ANDREALEONARDI, EMANUELATOSATTO, SILVIOManara RPEGORARO, ELENAMOSTACCIUOLO, MARIA LUISA + EUROPEAN JOURNAL OF NEUROLOGY - -
A pilot trial with clenbuterol in amyotrophic lateral sclerosis 2006 SORARU', GIANNIPEGORARO, ELENASPINELLA, PAOLOVERGANI, LODOVICAANGELINI, CORRADO + AMYOTROPHIC LATERAL SCLEROSIS - -
A severe case of Duchenne-like muscular dystrophy due to a mutation in the alpha-sarcoglycan (adhalin) gene 1996 FANIN, MARINAPEGORARO, ELENASORARU', GIANNIMOSTACCIUOLO, MARIA LUISATREVISAN, CARLO PIETROANGELINI, CORRADO + BASIC AND APPLIED MYOLOGY - -
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 2017 PEGORARO, ELENAANGELINI, CORRADOAlberti, Simon Marc + CELL REPORTS - -
Ablation of collagen VI leads to the release of platelets with altered function 2021 Chrisam M.Semplicini C.Petronilli V.Bello L.Pegoraro E.Bernardi P.Braghetta P.Bonaldo P. + BLOOD ADVANCES - -
Abnormal cochlear potentials in Friedreich's ataxia point to disordered synchrony of auditory nerve fiber activity 2015 SANTARELLI, ROSAMARIACAMA, ELONAPEGORARO, ELENASCIMEMI, PIETRO NEURODEGENERATIVE DISEASES - -
Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients. 1994 FANIN, MARINAPEGORARO, ELENAANGELINI, CORRADO JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Adult acid maltase deficiency: an open trial with albuterol and branched- chain aminoacids 2004 ANGELINI, CORRADOPEGORARO, ELENAVERGANI, LODOVICANASCIMBENI, ANNA CHIARAFANIN, MARINA + BASIC AND APPLIED MYOLOGY - -
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy 2022 Bello, LucaPegoraro, Elena + PLOS ONE - -